Article
Hemoglobin E and codon 17 nonsense: two beta-globin gene mutations common in Southeast Asia detected by the use of ARMS.
Annals of hematology - 1 Sept 1993
Steger H, Eigel A, Flatz G, Horst J
Abstract excerpt
Hemoglobin E (codon 26 GAG-->AAG) and codon 17 nonsense (AAG-->TAG), two clinically important mutations of the beta-globin gene, are common in Southeast Asia. The detection of these mutations using allele-specific PCR is described. Together with the previously reported method for the detection of the common Southeast asian codon 41-42 frameshift mutation (del CTTT), it is possible to identify the vast majority of...
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